Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease

• Published in: Human molecular genetics Vol. 24; no. 1; pp. 213 - 229
• Main Authors: Pla-Martín, David, Calpena, Eduardo, Lupo, Vincenzo, Márquez, Celedonio, Rivas, Eloy, Sivera, Rafael, Sevilla, Teresa, Palau, Francesc, Espinós, Carmen
• Format: Journal Article
• Language: English
• Published: England 01.01.2015
• Subjects: Animals; Calcium - metabolism; Cell Line; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - metabolism; Charcot-Marie-Tooth Disease - pathology; Evolution, Molecular; Genes, Modifier; Genetic Predisposition to Disease; Humans; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Mitochondria - metabolism; Mutation; Neoplasm Proteins - metabolism; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Phylogeny; Stromal Interaction Molecule 1

Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical...